26 results on '"Coucke, Paul"'
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2. Type I Procollagen C-Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure
3. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa
4. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
5. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
6. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
7. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
8. Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
9. Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly: Report of 14 Novel Mutations and Review of the Literature
10. COL5A1 Signal Peptide Mutations Interfere with Protein Secretion and Cause Classic Ehlers-Danlos Syndrome
11. Novel Clinico-molecular Insights in Pseudoxanthoma Elasticum Provide an Efficient Molecular Screening Method and a Comprehensive Diagnostic Flowchart
12. Three Arginine to Cysteine Substitutions in the Pro-Alpha (I)-Collagen Chain Cause Ehlers-Danlos Syndrome With a Propensity to Arterial Rupture in Early Adulthood
13. Consortium for Osteogenesis Imperfecta Mutations in the Helical Domain of Type I Collagen: Regions Rich in Lethal Mutations Align With Collagen Binding Sites for Integrins and Proteoglycans
14. Germline LEMD3 Mutations Are Rare in Sporadic Patients With Isolated Melorheostosis
15. A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3
16. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
17. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa
18. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
19. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
20. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
21. Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.
22. GermlineLEMD3 mutations are rare in sporadic patients with isolated melorheostosis
23. The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
24. A mutational hot spot in theKCNQ4 gene responsible for autosomal dominant hearing impairment
25. The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients.
26. A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
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